Mouse Genome Informatics
cn1
    Vhltm1Lss/Vhltm1.1Lss
Tg(ACTB-cre)1Tes/0

involves: 129X1/SvJ * C3H * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice began to die after 3 months of age
• 50% mortalitiy exhibited by 7 months of age
• 90% mortalitiy by 1 year of age

tumorigenesis
• all mice displayed grossly visible hemangiomas by 1 year of age

cardiovascular system
• frequent angiectasis in the liver and with lesser penetrance in the kidneys
• increased vasculature of the pancreas
• no vascular lesions observed in the brain, ovary, or adrenal glands
• limited new blood vessel formation in the liver
• angiogenesis observed the cardiac muscle of 8 of 10 mice examined

endocrine/exocrine glands
• enlarged blood vessels in the connective tissue surrounding the tubules (J:85513)
• tubule atrophy and collapse (J:85513)
(J:85513)

liver/biliary system
• livers were irregularly shaped and had vascular lesions containing large, thin-walled vessels filled with blood

reproductive system
• enlarged blood vessels in the connective tissue surrounding the tubules (J:85513)
• tubule atrophy and collapse (J:85513)
(J:85513)
• abnormal sperm maturation with multinucleated giant cells (J:85513)
• 30-fold reduction in sperm count relative to wild-type (J:85513)
(J:85513)

Mouse Models of Human Disease
OMIM IDRef(s)
Von Hippel-Lindau Syndrome; VHL 193300 J:85513